Wildhagen M F, van Os T A, Polder J J, ten Kate L P, Habbema J D
Department of Public Health, Erasmus University, Rotterdam, The Netherlands.
Community Genet. 1998;1(1):36-47. doi: 10.1159/000016133.
Evaluation of the costs, effects and savings of three strategies for female fragile X premutation and full mutation carrier screening in the general population.
We calculated the costs, effects and savings by using a general model for prenatal, preconceptional, and school carrier screening. Assumptions were based on literature data, expert opinions, prices and tariffs.
Prenatal screening will detect most carriers and will lead to the highest number of avoided fragile X syndrome patients. The costs per detected carrier are quite similar for all screening programmes (around USD 45,000). All screening strategies have a favourable cost-savings balance (USD 14 million for prenatal screening, USD 9 million for preconceptional screening and USD 2 million for school screening).
From an economic point of view, there is no obstacle to fragile X screening. The decision to screen or not can (and should) therefore concentrate on discussion of medical, social, psychological and ethical considerations.
评估在普通人群中对女性脆性X前突变和全突变携带者进行三种筛查策略的成本、效果和节省情况。
我们使用产前、孕前和学校携带者筛查的通用模型计算成本、效果和节省情况。假设基于文献数据、专家意见、价格和收费标准。
产前筛查将检测到大多数携带者，并导致避免脆性X综合征患者的数量最多。所有筛查项目每检测到一名携带者的成本相当相似（约45,000美元）。所有筛查策略都有良好的成本节省平衡（产前筛查节省1400万美元，孕前筛查节省900万美元，学校筛查节省200万美元）。
从经济角度来看，脆性X筛查没有障碍。因此，筛查与否的决定可以（而且应该）集中在对医学、社会、心理和伦理考量的讨论上。
